A locus for primary ciliary dyskinesia maps to chromosome 19q

Primary ciliary dyskinesia is an autosomal recessive condition characterise d by chronic sinusitis, bronchiectasis, and subfertility. Situs inversus oc curs in 50% of cases (Kartagener syndrome). It has an estimated incidence o f 1 in 20 000 live births. The clinical phenotype is caused by defective ci liary function associated with a range of ultrastructural abnormalities inc luding absent dynein arms, absent radial spokes, and disturbed ciliary orie ntation. The molecular genetic basis is unknown. A genome scan was performe d in five Arabic families. Using GENEHUNTER, a maximal multipoint lod score (HLOD) of 4.4 was obtained on chromosome 19q13.3-qter at a (proportion of linked families) = 0.7. A 15 cM critical region is defined by recombination s at D19S572 and D19S218. These data provide significant evidence for a PCD locus on chromosome 19q and confirm locus heterogeneity.